Low basal transcripts of the COL2A1 collagen gene from lymphoblasts show alternative splicing of exon 12 in the Kniest form of spondyloepiphyseal dysplasia.
Yang
W
W
Centre for the Study of Heritable Connective Tissue Diseases, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada.
Cole
W G
WG
D017398:Alternative Splicing; D000595:Amino Acid Sequence; D001483:Base Sequence; D003094:Collagen / Q000235:genetics*; D004252:DNA Mutational Analysis; D018076:DNA, Complementary / Q000737:chemistry / Q000235:genetics; D005091:Exons / Q000235:genetics*; D005786:Gene Expression Regulation; D006801:Humans; D008214:Lymphocytes / Q000166:cytology / Q000378:metabolism*; D009154:Mutation; D010009:Osteochondrodysplasias / Q000235:genetics*; D012333:RNA, Messenger / Q000235:genetics; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014158:Transcription, Genetic
D018076:DNA, Complementary; D012333:RNA, Messenger; D003094:Collagen